Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7.

Myoclonus-dystonia (M-D) is a movement disorder that is often associated with mutations in epsilon-sarcoglycan (SGCE), a maternally imprinted gene at 7q21.3. We report a 24-year-old male with short stature (<5th percentile) and a movement disorder clinically consistent with M-D. Single nucleotide polymorphism (SNP) array did not identify significant copy number changes, but revealed three long continuous stretches of homozygosity on chromosome 7 suggestive of uniparental disomy. Parental SNP arrays confirmed that the proband had maternal uniparental disomy of chromosome 7 (mUPD7) with regions of heterodisomy and isodisomy. mUPD7 is the cause of approximately 5-10% of Silver-Russell syndrome (SRS), a disorder characterized by prenatal and postnatal growth retardation. Although SRS was not suspected in our patient, these findings explain his short stature. SGCE methylation testing showed loss of the unmethylated paternal allele. Our findings provide a unifying diagnosis for his short stature and M-D and help to optimize his medication regimen. In conclusion, we show that M-D is a clinical feature that may be associated with SRS due to mUPD7. Individuals with mUPD7 should be monitored for the development of movement disorders. Conversely, individuals with M-D and short stature should be evaluated for SRS.

The advent and growth of television broadcasting in Nigeria: its political and educational overtones.

PIP: In 1959, the regional government of Western Nigeria established the 1st television station in Nigeria and in Africa. Even though it promoted the station as a means to educate the people about development and the world, it initially served as a means for an opposition leader to address the people of Western Nigeria. The regional governments of Eastern and Northern Nigeria and the federal government in Lagos followed and started their own TV stations in the early 1960s. All 4 of these stations basically existed to serve partisan political objectives for the various governments. Any stations established after these 4 continued this same political and regionalistic heritage. In 1973, a new surge of regional consciousness occurred after the now military government allowed the division of the country into 19 states. This change, the concurrent oil boom, and the effectiveness and importance of existing TV broadcasting led to a new surge of state owned TV stations. 3 years later, the military government established the National Television Authority (NTA) to coordinate nationwide coverage. The NTA then acquired existing TV stations. This event slowed the growth of TV broadcasting until 1979 when military government rule ended. The 5 political parties vying for election in the states revoked the NTA charter and a proliferation of TV stations occurred. This also happened because the civilian administration was disorganized. As regionalization played a role in the broadcasting of political propaganda, so did it play a role in educational programming, Despite TV broadcasting's political ties, it has been successful in producing quality educational programs for schools and colleges nationwide via the NTA network with the assistance of UNESCO.^ieng